Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

BACKGROUND: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant...

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Detalles Bibliográficos
Autores principales: Chen, Xiang, Yan, Kai, Gao, Yanyan, Wang, Huijun, Chen, Guoqiang, Wu, Bingbing, Qin, Qian, Yang, Lin, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543684/
https://www.ncbi.nlm.nih.gov/pubmed/31146700
http://dx.doi.org/10.1186/s12881-019-0813-z

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